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Specimen Collection

Facioscapulohumeral Muscular Dystrophy type 1


Test Name
Facioscapulohumeral Muscular Dystrophy type 1
Test Code
SAFSHD
Specimen Type

EDTA

Minimum Volume
5 mL
Comments

Test cost: $800

For RCH patients: authorisation for testing is required from Laboratory Services Genetic Review panel.

labservices.genetics@rch.org.au 

Results available after 6-8 weeks.


LABORATORY NOTES:

KEEP AT ROOM TEMPERATURE 

Analysis performed by Southern Blot.

MBS item number
Non-MBS
Assay Performed
Molecular Medicine Department
Concord Repatriation general Hospital
Hospital Road
Concord NSW 2137
02 9767 7009

Alpha Tryptase (TPSAB1) copy number gene testing